CUBN S2717W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


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(CUBN Ser2717Trp)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr10:16943371: 100.0% (10757/10758) in EVS
  • C @ chr10:16983376: 100.0% (128/128) in GET-Evidence
  • Frequency shown in summary reports: 100.0% (10757/10758)



Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr10:16943371




Other external references

  • rs2796835
    Web search results (50 hits -- see all)
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... (dbSNP:rs6445902) CUBN O60494 S2717W 2713 VAR_025296 PIKK ...
  • Type I- 99%
    rs28505970) CUBN O60494 S2717W 2717 VAR_025296 CAMKL (0.661) CK2 (0.890) Polymorphism (dbSNP:rs2796835) 9572993 TECTA O75443 Y1870C 1870 VAR_018976 ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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